Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Sntb1'

402458

Institutional Source

Beutler Lab

Gene Symbol

Sntb1

Ensembl Gene

ENSMUSG00000060429

Gene Name

syntrophin, basic 1

Synonyms

beta1-Syntrophin, 59-1 DAP

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55499784-55770345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 55506191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 461 (G461R)

Ref Sequence

ENSEMBL: ENSMUSP00000041294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039769]

AlphaFold

Q99L88

Predicted Effect

probably damaging
Transcript: ENSMUST00000039769
AA Change: G461R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041294
Gene: ENSMUSG00000060429
AA Change: G461R

Domain	Start	End	E-Value	Type
PH	19	299	5.14e0	SMART
PDZ	120	194	4.5e-17	SMART
PH	322	434	2.81e-8	SMART

Meta Mutation Damage Score

0.7492

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,904,278 (GRCm39)	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,880,398 (GRCm39)		probably null	Het
Acvr1b	T	A	15: 101,091,857 (GRCm39)	C46S	probably damaging	Het
Ahi1	A	T	10: 20,846,818 (GRCm39)	H416L	possibly damaging	Het
Aspm	T	A	1: 139,406,072 (GRCm39)	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 85,313,824 (GRCm39)	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 57,940,267 (GRCm39)	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Cyp2a12	A	T	7: 26,735,888 (GRCm39)		probably null	Het
Dnai4	T	A	4: 102,906,600 (GRCm39)	S738C	possibly damaging	Het
Ep400	A	G	5: 110,816,496 (GRCm39)	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,552,929 (GRCm39)		probably null	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gpnmb	C	T	6: 49,033,139 (GRCm39)	T539M	probably benign	Het
Hdac1-ps	A	G	17: 78,799,867 (GRCm39)	E286G	probably benign	Het
Hspa9	A	G	18: 35,085,724 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,271,225 (GRCm39)	L2454P	probably damaging	Het
Ift140	T	A	17: 25,254,786 (GRCm39)	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,051,207 (GRCm39)	S50G	probably benign	Het
Il23r	T	A	6: 67,463,154 (GRCm39)	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,793,434 (GRCm39)	D636G	probably benign	Het
Klhl41	G	A	2: 69,510,171 (GRCm39)	W569*	probably null	Het
Klra4	T	A	6: 130,039,110 (GRCm39)	D94V	probably damaging	Het
Lca5	T	A	9: 83,280,666 (GRCm39)	H378L	probably benign	Het
Lhx8	T	A	3: 154,027,281 (GRCm39)	T254S	probably damaging	Het
Lrch3	C	T	16: 32,734,767 (GRCm39)	R86W	probably damaging	Het
Lrp2	T	A	2: 69,354,397 (GRCm39)	N477I	probably damaging	Het
Man2a1	T	A	17: 65,019,266 (GRCm39)	I710K	probably benign	Het
Ncor1	A	T	11: 62,229,826 (GRCm39)	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,402,074 (GRCm39)	V1100E	probably damaging	Het
Oprk1	T	C	1: 5,659,519 (GRCm39)	V83A	probably benign	Het
Or4p8	T	C	2: 88,727,678 (GRCm39)	T88A	probably benign	Het
Or5p62	A	G	7: 107,771,915 (GRCm39)	V12A	probably benign	Het
Or7g35	T	C	9: 19,496,322 (GRCm39)	V163A	probably benign	Het
Pacs1	C	T	19: 5,195,169 (GRCm39)	V472I	probably benign	Het
Pard3b	T	C	1: 62,383,272 (GRCm39)	Y789H	probably damaging	Het
Pcdha2	T	C	18: 37,073,844 (GRCm39)	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,216,106 (GRCm39)	N2261D	probably damaging	Het
Pex5l	A	T	3: 33,012,945 (GRCm39)	S15T	probably damaging	Het
Plekhg4	A	G	8: 106,105,581 (GRCm39)	N682S	probably benign	Het
Poc5	A	T	13: 96,539,463 (GRCm39)	M335L	probably benign	Het
Polr1a	C	T	6: 71,944,891 (GRCm39)	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,814,873 (GRCm39)	H617R	probably benign	Het
Pramel24	T	A	4: 143,454,591 (GRCm39)	S296R	probably benign	Het
Prpsap1	T	C	11: 116,378,974 (GRCm39)	K65E	probably benign	Het
Ptgfrn	T	C	3: 100,952,909 (GRCm39)	E775G	probably benign	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Rbbp8	C	A	18: 11,854,747 (GRCm39)	A324E	probably benign	Het
Rfx6	G	T	10: 51,554,092 (GRCm39)	G63*	probably null	Het
Rpl37a	T	C	1: 72,751,308 (GRCm39)	M47T	probably benign	Het
Samm50	T	G	15: 84,084,831 (GRCm39)	N187K	probably benign	Het
Skic2	A	G	17: 35,064,142 (GRCm39)		probably null	Het
Slamf9	T	C	1: 172,303,799 (GRCm39)	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,577,931 (GRCm39)	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,083,710 (GRCm39)	G388S	probably damaging	Het
Smtn	G	T	11: 3,479,530 (GRCm39)	N512K	probably benign	Het
Sspo	A	G	6: 48,455,258 (GRCm39)	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,183,401 (GRCm39)	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,872,161 (GRCm39)	M227K	probably damaging	Het
Thsd4	T	C	9: 59,964,325 (GRCm39)	D389G	probably damaging	Het
Tnxb	T	C	17: 34,923,052 (GRCm39)	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,142,589 (GRCm39)	I712F	probably damaging	Het
Trim62	T	C	4: 128,803,204 (GRCm39)	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,771,224 (GRCm39)	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r66	T	C	7: 84,657,093 (GRCm39)	D104G	probably benign	Het
Wdr26	T	C	1: 181,015,251 (GRCm39)	I371V	probably benign	Het
Zfp273	T	G	13: 67,974,298 (GRCm39)	C475W	probably damaging	Het
Zfp738	G	T	13: 67,821,182 (GRCm39)	T55K	probably damaging	Het
Zmym2	A	G	14: 57,183,971 (GRCm39)	I978V	probably benign	Het

Other mutations in Sntb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02056:Sntb1	APN	15	55,511,435 (GRCm39)	missense	possibly damaging	0.93
IGL02732:Sntb1	APN	15	55,655,596 (GRCm39)	missense	possibly damaging	0.62
IGL02965:Sntb1	APN	15	55,506,081 (GRCm39)	nonsense	probably null
IGL03084:Sntb1	APN	15	55,655,487 (GRCm39)	missense	probably damaging	0.99
IGL03286:Sntb1	APN	15	55,655,442 (GRCm39)	missense	possibly damaging	0.59
R0117:Sntb1	UTSW	15	55,769,749 (GRCm39)	missense	probably benign
R0178:Sntb1	UTSW	15	55,769,540 (GRCm39)	missense	probably damaging	0.98
R0465:Sntb1	UTSW	15	55,612,672 (GRCm39)	missense	probably benign	0.02
R0626:Sntb1	UTSW	15	55,506,179 (GRCm39)	missense	probably benign	0.20
R0726:Sntb1	UTSW	15	55,539,752 (GRCm39)	missense	probably benign
R1125:Sntb1	UTSW	15	55,612,676 (GRCm39)	missense	probably benign
R1443:Sntb1	UTSW	15	55,511,351 (GRCm39)	missense	probably damaging	1.00
R1888:Sntb1	UTSW	15	55,612,745 (GRCm39)	nonsense	probably null
R1888:Sntb1	UTSW	15	55,612,745 (GRCm39)	nonsense	probably null
R2208:Sntb1	UTSW	15	55,769,714 (GRCm39)	missense	possibly damaging	0.79
R2426:Sntb1	UTSW	15	55,769,575 (GRCm39)	missense	probably damaging	1.00
R3721:Sntb1	UTSW	15	55,506,214 (GRCm39)	missense	probably benign	0.10
R4370:Sntb1	UTSW	15	55,655,487 (GRCm39)	missense	probably damaging	0.99
R4706:Sntb1	UTSW	15	55,612,670 (GRCm39)	missense	probably benign	0.09
R4883:Sntb1	UTSW	15	55,506,198 (GRCm39)	nonsense	probably null
R5242:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5270:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5313:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5314:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5316:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5336:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5337:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5396:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5398:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5427:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5428:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5429:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5431:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5594:Sntb1	UTSW	15	55,506,191 (GRCm39)	missense	probably damaging	1.00
R5658:Sntb1	UTSW	15	55,655,472 (GRCm39)	missense	probably damaging	1.00
R5665:Sntb1	UTSW	15	55,655,535 (GRCm39)	missense	probably benign	0.00
R6147:Sntb1	UTSW	15	55,511,406 (GRCm39)	missense	probably benign
R6159:Sntb1	UTSW	15	55,539,698 (GRCm39)	critical splice donor site	probably null
R6883:Sntb1	UTSW	15	55,769,719 (GRCm39)	missense	probably benign	0.38
R7008:Sntb1	UTSW	15	55,655,468 (GRCm39)	nonsense	probably null
R7168:Sntb1	UTSW	15	55,654,661 (GRCm39)	missense	probably benign	0.00
R7511:Sntb1	UTSW	15	55,511,347 (GRCm39)	missense	possibly damaging	0.71
R7600:Sntb1	UTSW	15	55,655,584 (GRCm39)	missense	possibly damaging	0.82
R8242:Sntb1	UTSW	15	55,655,629 (GRCm39)	missense	possibly damaging	0.95
R8804:Sntb1	UTSW	15	55,655,523 (GRCm39)	missense	probably benign	0.37
R9280:Sntb1	UTSW	15	55,769,771 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAGTAGTCAGGCCGCCTAC -3'
(R):5'- TAAGAAATTCGTGGCTGGGCAC -3'

Sequencing Primer
(F):5'- ACTTCCAAGTCATTGCACATG -3'
(R):5'- CTGGGCACTGGGTTGAAG -3'

Posted On

2016-07-22